Incidental Mutation 'R1429:Cactin'
ID |
161449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cactin
|
Ensembl Gene |
ENSMUSG00000034889 |
Gene Name |
cactin, spliceosome C complex subunit |
Synonyms |
2510012J08Rik |
MMRRC Submission |
039485-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
R1429 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81156937-81162076 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81159512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 23
(I23T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045469]
[ENSMUST00000050867]
[ENSMUST00000161854]
[ENSMUST00000163075]
[ENSMUST00000218120]
|
AlphaFold |
Q9CS00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045469
|
SMART Domains |
Protein: ENSMUSP00000038225 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050867
AA Change: I337T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000059533 Gene: ENSMUSG00000034889 AA Change: I337T
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
101 |
N/A |
INTRINSIC |
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
coiled coil region
|
157 |
184 |
N/A |
INTRINSIC |
low complexity region
|
186 |
206 |
N/A |
INTRINSIC |
low complexity region
|
246 |
253 |
N/A |
INTRINSIC |
Pfam:Cactin_mid
|
292 |
479 |
2.1e-68 |
PFAM |
low complexity region
|
507 |
524 |
N/A |
INTRINSIC |
low complexity region
|
531 |
558 |
N/A |
INTRINSIC |
low complexity region
|
596 |
607 |
N/A |
INTRINSIC |
CactinC_cactus
|
648 |
772 |
2.13e-87 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161854
|
SMART Domains |
Protein: ENSMUSP00000124004 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163075
|
SMART Domains |
Protein: ENSMUSP00000124155 Gene: ENSMUSG00000034902
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
low complexity region
|
69 |
78 |
N/A |
INTRINSIC |
PIPKc
|
103 |
444 |
2.72e-164 |
SMART |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
low complexity region
|
575 |
591 |
N/A |
INTRINSIC |
low complexity region
|
601 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218120
AA Change: I23T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219285
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Alg8 |
C |
T |
7: 97,039,499 (GRCm39) |
A410V |
probably benign |
Het |
Arhgef4 |
A |
G |
1: 34,849,420 (GRCm39) |
Y481C |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,418,260 (GRCm39) |
V56A |
possibly damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,656,900 (GRCm39) |
I3051V |
probably benign |
Het |
Cpxm1 |
A |
T |
2: 130,238,364 (GRCm39) |
I66N |
probably damaging |
Het |
Ddx50 |
G |
A |
10: 62,482,847 (GRCm39) |
T74I |
possibly damaging |
Het |
Dnah7b |
G |
T |
1: 46,328,816 (GRCm39) |
D3183Y |
possibly damaging |
Het |
Dsg1b |
A |
G |
18: 20,523,252 (GRCm39) |
D93G |
probably damaging |
Het |
Ess2 |
G |
A |
16: 17,720,069 (GRCm39) |
R427* |
probably null |
Het |
Fam135a |
T |
G |
1: 24,083,348 (GRCm39) |
K292N |
probably damaging |
Het |
Fam83b |
G |
T |
9: 76,399,859 (GRCm39) |
R415S |
probably benign |
Het |
Fxyd3 |
T |
A |
7: 30,773,046 (GRCm39) |
M1L |
probably benign |
Het |
Gm5134 |
T |
A |
10: 75,814,215 (GRCm39) |
M193K |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,720,925 (GRCm39) |
E427G |
possibly damaging |
Het |
Gpat3 |
G |
A |
5: 101,040,953 (GRCm39) |
G338S |
probably damaging |
Het |
Hmgxb3 |
C |
T |
18: 61,283,505 (GRCm39) |
R606Q |
probably damaging |
Het |
Itgb1 |
T |
C |
8: 129,444,157 (GRCm39) |
|
probably null |
Het |
Myh1 |
C |
A |
11: 67,108,736 (GRCm39) |
T1384K |
possibly damaging |
Het |
Myo3b |
A |
C |
2: 70,083,351 (GRCm39) |
Q640P |
probably damaging |
Het |
Naa16 |
A |
G |
14: 79,596,967 (GRCm39) |
V305A |
probably benign |
Het |
Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,534,020 (GRCm39) |
D631G |
probably benign |
Het |
Phc2 |
C |
A |
4: 128,637,348 (GRCm39) |
P51Q |
probably damaging |
Het |
Pmel |
G |
A |
10: 128,554,861 (GRCm39) |
|
probably null |
Het |
Rassf8 |
G |
T |
6: 145,760,916 (GRCm39) |
G81W |
probably damaging |
Het |
Rfx2 |
G |
T |
17: 57,111,369 (GRCm39) |
Q68K |
probably damaging |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Rsbn1l |
A |
G |
5: 21,125,016 (GRCm39) |
L262S |
probably damaging |
Het |
S100a16 |
A |
C |
3: 90,449,391 (GRCm39) |
Y22S |
probably damaging |
Het |
Stx19 |
G |
A |
16: 62,642,960 (GRCm39) |
V259I |
possibly damaging |
Het |
Tas2r105 |
T |
C |
6: 131,663,904 (GRCm39) |
I175V |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 84,802,031 (GRCm39) |
H90L |
possibly damaging |
Het |
Wscd1 |
T |
A |
11: 71,651,000 (GRCm39) |
L109Q |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,413,070 (GRCm39) |
Q1154L |
probably damaging |
Het |
Zmym6 |
T |
C |
4: 127,017,672 (GRCm39) |
L1059P |
probably damaging |
Het |
|
Other mutations in Cactin |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01124:Cactin
|
APN |
10 |
81,160,184 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01631:Cactin
|
APN |
10 |
81,159,058 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01816:Cactin
|
APN |
10 |
81,161,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02484:Cactin
|
APN |
10 |
81,158,808 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03001:Cactin
|
APN |
10 |
81,161,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Cactin
|
UTSW |
10 |
81,158,486 (GRCm39) |
missense |
probably benign |
|
R0241:Cactin
|
UTSW |
10 |
81,158,486 (GRCm39) |
missense |
probably benign |
|
R0326:Cactin
|
UTSW |
10 |
81,158,496 (GRCm39) |
missense |
probably benign |
0.01 |
R0570:Cactin
|
UTSW |
10 |
81,159,067 (GRCm39) |
missense |
probably damaging |
0.98 |
R0591:Cactin
|
UTSW |
10 |
81,159,837 (GRCm39) |
nonsense |
probably null |
|
R1444:Cactin
|
UTSW |
10 |
81,158,270 (GRCm39) |
splice site |
probably null |
|
R1470:Cactin
|
UTSW |
10 |
81,158,985 (GRCm39) |
nonsense |
probably null |
|
R1470:Cactin
|
UTSW |
10 |
81,158,985 (GRCm39) |
nonsense |
probably null |
|
R1630:Cactin
|
UTSW |
10 |
81,159,559 (GRCm39) |
missense |
probably benign |
0.26 |
R2022:Cactin
|
UTSW |
10 |
81,158,727 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3401:Cactin
|
UTSW |
10 |
81,161,709 (GRCm39) |
missense |
probably benign |
0.07 |
R3402:Cactin
|
UTSW |
10 |
81,161,709 (GRCm39) |
missense |
probably benign |
0.07 |
R3403:Cactin
|
UTSW |
10 |
81,161,709 (GRCm39) |
missense |
probably benign |
0.07 |
R5284:Cactin
|
UTSW |
10 |
81,159,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R6126:Cactin
|
UTSW |
10 |
81,160,143 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6127:Cactin
|
UTSW |
10 |
81,160,143 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6907:Cactin
|
UTSW |
10 |
81,159,278 (GRCm39) |
critical splice donor site |
probably null |
|
R7339:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7340:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7558:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7625:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7627:Cactin
|
UTSW |
10 |
81,157,152 (GRCm39) |
unclassified |
probably benign |
|
R7904:Cactin
|
UTSW |
10 |
81,161,699 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8825:Cactin
|
UTSW |
10 |
81,161,492 (GRCm39) |
missense |
probably damaging |
0.99 |
R8885:Cactin
|
UTSW |
10 |
81,157,082 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGGCCATCTGACACTCCTATC -3'
(R):5'- ATGTCCCGCCAGAAGTCCACATTC -3'
Sequencing Primer
(F):5'- ATCAGTCTGAACCTGTTTGGC -3'
(R):5'- GAGGGCTGAGGCAATATaggg -3'
|
Posted On |
2014-03-14 |